| Title: | Analysis of Alpha1-Antitrypsin related comorbidities |
| Lead Institution: | Uniklinik RWTH Aachen |
| Principal investigator: | Dr Pavel Strnad |
Application 47527
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About
Severe Alpha1-antitrypsin deficiency (AATD) is the third most common genetic disorder leading to death and is caused mainly by the homozygous PiZ mutation (termed as Pi*ZZ). While lung and disease constitute the leading causes of AATD-related mortality, multiple other disorders including panniculitis and vasculitis have been described to associate with AATD. While the Pi*ZZ genotype is relatively rare,the heterozygous carriage of PiZ allele (termed Pi*MZ) is seen in ~2% of European population, however the health risks associated with this genotype remain unknown. Recently, we demonstrated that PiZ carriage predisposes alcohol misusers as well as individuals with non-alcoholic fatty liver disease to development of liver cirrhosis. As the next step, we want to characterize the health risks associated with the Pi*MZ in the general population. For this purpose, we would like to use the UK biobank and compare a variety of metabolic and organ-related parameters between PiZ carriers and non-carriers. The parameters, that will display significant differences between the groups, will be subjected to multivariate analysis to account for confounders.6 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 12503 | Association of Telomere Length With Risk of Disease and Mortality | Carolin V. Schneider (+6) | 2022 | JAMA Internal Medicine |
| 12205 | Comorbidities in lichen planus by phenome-wide association study in two biobank population cohorts* | Malin Fromme (+7) | 2022 | British Journal of Dermatology |
| 10457 | Phenome of coeliac disease vs. inflammatory bowel disease | Moritz Kleinjans (+3) | 2022 | Scientific Reports |
| 12890 | Phenome-wide association study in adult coeliac disease: role of HLA subtype | Carolin V. Schneider (+4) | 2020 | Alimentary Pharmacology & Therapeutics |
| 8191 | Reply | Carolin V Schneider (+2) | 2021 | Gastroenterology |
| 7288 | SARS-CoV-2 infection in alpha1-antitrypsin deficiency | Carolin V Schneider (+1) | 2021 | Respiratory Medicine |
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